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Pontocerebellar hypoplasia type 2
4 OMIM references -
4 associated genes
19 connected diseases
No signs/symptoms info
Disease Type of connection
Pontocerebellar hypoplasia type 1
Pontocerebellar hypoplasia type 4
Pontocerebellar hypoplasia type 5
Progressive cerebello-cerebral atrophy
Cataract - intellectual deficit - hypogonadism
Micro syndrome
Anophthalmia / microphthalmia - esophageal atresia
Colobomatous microphthalmia
Distal myopathy, Nonaka type
Familial pancreatic carcinoma
Familial prostate cancer
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Isolated anophthalmia - microphthalmia
Mandibular hypoplasia-deafness-progeroid syndrome
Primary peritoneal carcinoma
Septo-optic dysplasia
Sialuria
Synonym(s):
- PCH2
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: child / adolescent
Type of inheritance: autosomal recessive
External references:
4 OMIM references -
1 MeSH reference: C548070
Gene symbol UniProt reference OMIM reference
SEPSECS Q9HD40613009
TSEN2 Q8NCE0608753
TSEN34 Q9BSV6608754
TSEN54 Q7Z6J9608755
No signs/symptoms info available.